Test Price
2,800 AED✅ Home Collection Available
RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid hospital-grade home collection via ISO certified cold-chain, including VIP Mobile Phlebotomy (8 AM‑11 PM).
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation, provided by DHA-licensed clinical geneticists.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731. Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
Test Overview & Methodology
The RPL5 gene NGS test identifies pathogenic variants causing Diamond‑Blackfan Anemia Type 6, a rare inherited bone marrow failure syndrome. This comprehensive analysis covers all coding exons and intron‑exon boundaries, detecting single nucleotide variants, insertions/deletions, and low‑level mosaicism with >99.9% analytical sensitivity.
| Feature | Our NGS Test | Closest Alternative (Sanger RPL5) |
|---|---|---|
| Precision | 99.9% analytical sensitivity; detects low‑level mosaicism | ~95% sensitivity; may miss mosaicism or deep intronic variants |
| Methodology | Next‑Generation Sequencing (NGS) with full exon/intron boundary coverage | Sanger sequencing of coding exons only |
| Speed (TAT) | 3–4 Weeks | 6–8 Weeks typical |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I see the profound impact that definitive molecular diagnosis has on families navigating suspected Diamond‑Blackfan anemia. This RPL5 NGS test provides precise variant identification, but interpretation must be integrated with hematologic parameters, bone marrow findings, and a three‑generation pedigree. I strongly recommend booking a post‑test genetic counselling session to discuss results and implications for family members.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Safety Advisory
Do Not Discontinue Prescribed Medication
Genetic test results do not replace ongoing clinical monitoring. Continue all prescribed therapies unless explicitly advised by your treating physician. If you experience sudden severe anemia symptoms (extreme shortness of breath, chest pain, confusion, or syncope), seek emergency care immediately.
Exclusion Criteria for Testing
- Recent transfusion: Allogeneic blood transfusion within 4 weeks may introduce donor DNA and interfere with analysis.
- Informed consent: Inability to provide valid informed consent or absence of pre‑test genetic counselling session.
- Minors: Testing of minors without parental/guardian consent per Federal Law No. 2 of 2019 and PDPL regulations.
Patient FAQ & Clinical Guidance
1. What is the RPL5 gene Diamond‑Blackfan anemia test?
This NGS test sequences the entire RPL5 gene to detect mutations causing Diamond‑Blackfan Anemia Type 6, a rare inherited bone marrow disorder. It provides definitive molecular confirmation to guide treatment and family screening.
2. How do I prepare for the test?
You must undergo genetic counselling to provide a family pedigree and clinical history before sample collection. The blood draw is simple, no fasting required. Home phlebotomy is available 8 AM‑11 PM daily.
3. What do I do if the result is positive?
A positive result confirms the diagnosis of Diamond‑Blackfan Anemia Type 6. Your hematologist and geneticist will guide treatment options such as corticosteroids, transfusion support, or stem cell transplantation eligibility.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates under strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes. Patient consent and data confidentiality are enforced per DHA regulations.
Clinical & Logistical Metadata
| Test Name | RPL5 Gene Diamond‑Blackfan Anemia Type 6 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3 mL in EDTA tube) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene coverage, ≥100× depth |
| ICD-10-CM Code | D61.0 (Constitutional aplastic anemia including Diamond‑Blackfan) |
| LOINC Code | 81247-9 (Master LOINC for gene sequencing) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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